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Excerpt from Pierre Robin Syndrome


Synonyms, Key Words, and Related Terms: Pierre Robin syndrome, Pierre Robin sequence, Robin syndrome, Robin sequence, micrognathia, cleft palate, bifid uvula, double uvula, submucous cleft, retroglossoptosis, mandibular hypoplasia, glossoptosis, macroglossia, ankyloglossia, obstructive sleep apnea, OSA, otitis media, hearing loss, auricular anomalies, velopharyngeal insufficiency, speech defects, hypermetropia, myopia, astigmatism, corneal sclerosis, nasolacrimal duct stenosis, heart murmurs, pulmonary stenosis, patent ductus arteriosus, patent foramen ovale, atrial septal defect, pulmonary hypertension, syndactyly, dysplastic phalanges, polydactyly, clinodactyly, hyperextensible joints, oligodactyly, clubfeet, metatarsus adductus, femoral malformations, coxa varus or valgus, short femur, flexure contractures, congenital hip dislocation, genu valgus, synchondrosis, tibial abnormalities, scoliosis, kyphosis, lordosis, vertebral dysplasia, sacral agenesis, coccygeal sinus, language delay, epilepsy, neurodevelopmental delay,hypotonia,hydrocephalus,undescended testes, hydronephrosis, hydrocele, Stickler syndrome, trisomy 11q syndrome, trisomy 18 syndrome, velocardiofacial syndrome, Shprintzen syndrome, deletion 4q syndrome, rheumatoid arthropathy, hypochondroplasia, Möbius syndrome, CHARGE association

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Lannelongue and Menard first described Pierre Robin syndrome in 1891 in a report on 2 patients with micrognathia, cleft palate, and retroglossoptosis. In 1926, Pierre Robin published the case of an infant with the complete syndrome. Until 1974, the triad was known as Pierre Robin syndrome; however, the term syndrome is now reserved for those errors of morphogenesis with the simultaneous presence of multiple anomalies caused by a single etiology. The term sequence has been introduced to include any condition that includes a series of anomalies caused by a cascade of events initiated by a single malformation.

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